ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)

gnomAD frequency: 0.00003  dbSNP: rs746570981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488072 SCV000575436 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195960 SCV001366387 uncertain significance Macular degeneration, early-onset 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001857717 SCV002183226 likely benign Congenital contractural arachnodactyly 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354546 SCV002625231 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-05-24 criteria provided, single submitter clinical testing The p.R1237C variant (also known as c.3709C>T), located in coding exon 28 of the FBN2 gene, results from a C to T substitution at nucleotide position 3709. The arginine at codon 1237 is replaced by cysteine, an amino acid with highly dissimilar properties, and is located in the cbEGF-like #15 domain. In one study, 13 of 14 reported FBN2 mutations were found in the middle region of the gene (exons 24-36), and 7 of these mutations were noted to alter or produce a cysteine residue (Callewaert BL et al. Hum Mutat. 2009;30(3):334-341). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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